Project description:Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may play an important role in ID as most individuals with ID present as isolated cases without family history and/or clear syndromic indication. In addition, the involvement of such mutations have recently been demonstrated in a small number of individuals with ID. Here we evaluate the diagnostic potential and role of de novo mutations in a cohort of 100 patients with ID of unknown cause using family-based exome sequencing. Single end short-read (50 bp) SOLiD 4 sequencing data for 300 individuals, constituting 100 patient-parent trios. For more details please read; http://www.nejm.org/doi/full/10.1056/NEJMoa1206524. Dataset is created by RUNMC (Radboud University, Nijmegen Medical Center), partner of Geuvadis consortium (http://www.geuvadis.org).

2013-11-06 | E-GEUV-5 | biostudies-arrayexpress

Whole exome sequencing of Cervical Squamous samples

Project description:The raw data consist of whole exome sequencing data of cervical squamous samples

2022-02-11 | E-MTAB-11407 | biostudies-arrayexpress

NIDDK International IBD Genetics Consortium Repository Global Screening Array

Project description:NIDDK International IBD Genetics Consortium Repository Global Screening Array

| PRJNA695808 | ENA